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{
"count": 220918,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1022",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1020",
"results": [
{
"created": "2022-01-27T10:06:45.316699+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHP1 were set to PMID: 29379881, 32787936",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T10:06:28.828512+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHP1 as Amber List (moderate evidence)",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T10:06:28.815873+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T10:06:13.924235+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 9, autosomal recessive, OMIM #618438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T10:03:21.443681+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHP1 as ready",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T10:03:21.430359+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chp1 has been classified as Green List (High Evidence).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T10:03:18.242869+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHP1 were set to PMID: 29379881, 32787936",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:58:22.632376+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 to Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:57:29.959223+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:56:44.465235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621; Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:56:15.339077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:42:19.776694+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:41:51.763373+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FNIP1: Changed phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:41:22.226877+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:39:04.101484+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, Neutropenia, Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:38:41.660310+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FNIP1: Changed phenotypes: Hypertrophic Cardiomyopathy, Primary Immunodeficiency, Agammaglobulinemia, NeutropeniaImmunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:38:21.186056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:37:51.756070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FNIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FNIP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:36:24.690619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, MIM# 615314; Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallman syndrome",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:35:58.376267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF12: Changed phenotypes: Craniosynostosis 3, MIM# 615314, Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallman syndrome",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:35:28.421413+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF12 were changed from Kallmann syndrome to Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallmann syndrome",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:28:28.989725+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF12: Changed phenotypes: Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallmann syndrome",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:19:12.238924+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707",
"entity_name": "SPI1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:18:46.014663+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707",
"entity_name": "SPI1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:18:21.887015+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707",
"entity_name": "SPI1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:17:58.873458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707",
"entity_name": "SPI1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:13:22.662208+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CHP1 as Green List (high evidence)",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:13:22.651808+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: chp1 has been classified as Green List (High Evidence).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:12:37.058233+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CHP1 was added\ngene: CHP1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to PMID: 29379881, 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438\nReview for gene: CHP1 was set to GREEN\nAdded comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.\r\n\r\nDecreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse. \nSources: Literature",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:12:06.385311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYS1 as ready",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:12:06.375151+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:11:52.585323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYS1 as Amber List (moderate evidence)",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:11:52.572080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:11:23.220568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYS1 was added\ngene: CYS1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYS1 were set to 34521872\nPhenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642\nReview for gene: CYS1 was set to AMBER\nAdded comment: Single family reported. However, extensive experimental data, including mouse model. \nSources: Literature",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:10:55.492760+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.308",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CHP1 as Green List (high evidence)",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:10:55.480972+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.308",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: chp1 has been classified as Green List (High Evidence).",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:10:18.512694+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.307",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CHP1 was added\ngene: CHP1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHP1 were set to PMID: 29379881, 32787936\nPhenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, OMIM #618438\nReview for gene: CHP1 was set to GREEN\nAdded comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family. \r\n\r\nDecreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse. \nSources: Literature",
"entity_name": "CHP1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:08:21.320642+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYS1 as ready",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:08:21.310859+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:08:13.366850+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYS1 as Amber List (moderate evidence)",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:08:13.356406+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cys1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T09:07:48.257265+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYS1 was added\ngene: CYS1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYS1 were set to 34521872\nPhenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642\nReview for gene: CYS1 was set to AMBER\nAdded comment: Single family reported. However, extensive experimental data, including mouse model. \nSources: Literature",
"entity_name": "CYS1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:36.584759+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRAT1 as Green List (high evidence)",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:36.567990+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:31.608286+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRAT1 as Green List (high evidence)",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:31.597485+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:30.066384+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRAT1 as Green List (high evidence)",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:30.054719+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.306",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:56:06.765396+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546\nPhenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056\nReview for gene: BRAT1 was set to GREEN\nAdded comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:55:29.598174+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.305",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546\nPhenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056\nReview for gene: BRAT1 was set to GREEN\nAdded comment: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene. \nSources: Literature",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:50.697339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX7 as ready",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:50.686693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Red List (Low Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:42.994175+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAX7 as Red List (low evidence)",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:42.983386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax7 has been classified as Red List (Low Evidence).",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:42:30.565966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Progressive disorder, onset in infancy.",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:40:23.465291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH2 as ready",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:40:23.451132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah2 has been classified as Red List (Low Evidence).",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2022-01-27T08:40:19.792409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH2 were changed from Hydrops; Complex cardiopathy to Hydrops; complex congenital heart disease; heterotaxy",
"entity_name": "DNAH2",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:40.378427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSPAN7 as ready",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:40.365678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tspan7 has been classified as Red List (Low Evidence).",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:34.949886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSPAN7 were changed from MENTAL RETARDATION X-LINKED TYPE 58 to Intellectual developmental disorder, X-linked 58, MIM# 300210",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:47:18.591553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM# 300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:44:11.573768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2815",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TRAPPC2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:43:27.161672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2814",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TPP1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:42:10.189951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOGARAM1 as ready",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:42:10.178611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Red List (Low Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:41:44.783377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2813",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TMPRSS6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:40:58.720280+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2812",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TNFRSF11B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:40:07.455547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2811",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:TNFRSF13B from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-25T18:38:10.776266+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEGF8 as ready",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:38:10.765624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: megf8 has been classified as Green List (High Evidence).",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:36:21.224296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEGF8 were changed from CARPENTER SYNDROME to Carpenter syndrome 2, MIM #614976",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:36:04.839934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEGF8 were set to ",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:35:51.196357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is described in this condition. \nSources: Expert list; to: Craniosynostosis and polysyndactyly.\r\n\r\n\r\nSources: Expert list",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:49.880249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2C as ready",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:49.868609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2c has been classified as Green List (High Evidence).",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:45.518631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2C were changed from MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:31.788704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEF2C were set to ",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:12.018036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:34:00.657036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MEF2C.",
"entity_name": "MEF2C",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:33:27.012957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:33:27.000835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:33:23.799775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from LUJAN-FRYNS SYNDROME; OPITZ-KAVEGGIA SYNDROME to Lujan-Fryns syndrome, MIM#\t309520; Opitz-Kaveggia syndrome, MIM#\t305450",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:32:39.867560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to ",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:46.703174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCPH1 as ready",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:46.691519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcph1 has been classified as Green List (High Evidence).",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:43.358787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCPH1 were changed from MICROCEPHALY PRIMARY TYPE 1 to Microcephaly 1, primary, autosomal recessive, MIM# 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:30.509185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCPH1 were set to ",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:16.340239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established primary micorcephaly gene.\r\n\r\nSources: Literature; to: Well established primary microcephaly gene.\r\n\r\nSources: Literature",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:31:07.307407+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported as part of a CDH cohort. \nSources: Literature; to: Well established primary micorcephaly gene.\r\n\r\nSources: Literature",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:48.770512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCPH1: Changed rating: GREEN; Changed phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:15.957265+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:15.944674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Green List (High Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:30:09.629315+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from MUCOLIPIDOSIS IV to Mucolipidosis IV, MIM# 252650; MONDO:0009653",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:29:57.858255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCOLN1 were set to ",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:29:42.905913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCOLN1: Added comment: Prenatal presentations with brain abnormalities reported.; Changed rating: GREEN; Changed publications: 33963976",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:28:48.171245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCOLN1: Changed rating: RED",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:51.693441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MATN3 as ready",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:51.683072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: matn3 has been classified as Green List (High Evidence).",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-01-25T18:27:47.984710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MATN3 were changed from Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078) to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728",
"entity_name": "MATN3",
"entity_type": "gene"
}
]
}